A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review

作者：Sha Yanwei; Zheng Liangkai; Ji Zhiyong; Mei Libin; Ding Lu; Lin Shaobin; Wang Xu; Yang Xiaoyu^*; Li Ping^*

来源：BMC Medical Genetics, 2018, 19(1): 63.

DOI：10.1186/s12881-018-0570-4

• TEX11 mutation
• Azoospermia
• Infertility
• Meiosis
• Whole-exome sequencing

Background: Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoospermic and infertile men.
Case presentation: This study reported one novel TEX11 mutation (2653G -> T, in exon 29, GenBank accession number, NM_031276) in two brothers with azoospermia. This mutation was firstly screened out by whole-exome sequencing (WES) and further verified by amplifying and sequencing the specific exon 29. Surprisingly, the same exonic missense mutation (W856C) was observed in two brothers but not in their mother. Histological analysis of testicular biopsy from both brothers revealed meiotic arrest and no post-meiotic round spermatids and mature spermatozoa were observed in the seminiferous tubules. TEX11 expression was observed strongly in spermatogonia and weakly in spermatocytes, but not in Sertoli cells and interstitial cells.
Conclusions: We identified one novel TEX11 mutation in two brothers and summarized the literature regarding TEX11 mutations and male infertility. This study and previous literature indicate that TEX11 mutations are closely associated with male infertility, especially azoospermia, although auxiliary clinical analyses are needed to figure out the causes of male infertility.

• 出版日期2018-4-16
• 单位南京医科大学